Polymorphisms in exon 13 and intron 14 of the RET proto-oncogene: Genetic modifiers of medullary thyroid carcinoma?

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
H Vierhapper ◽  
S Baumgartner-Parzer
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Genetic Modifiers ◽  
Medullary Thyroid

scholarly journals Polymorphisms in Exon 13 and Intron 14 of the RET Protooncogene: Genetic Modifiers of Medullary Thyroid Carcinoma?

2005 ◽  
Vol 90 (11) ◽  
pp. 6232-6236 ◽  
Author(s):  
S. M. Baumgartner-Parzer ◽  
R. Lang ◽  
L. Wagner ◽  
G. Heinze ◽  
B. Niederle ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Germ Line ◽  
Elevated Serum ◽  
Control Group ◽  
Serum Concentrations ◽  
Genetic Modifiers ◽  
Cycle Sequencing ◽  
Medullary Thyroid ◽  
Ret Protooncogene

Abstract Context: Single-nucleotide polymorphisms (SNPs) of the RET protooncogene (RET) could modify disease susceptibility and clinical phenotype in patients with sporadic or familial medullary thyroid carcinoma (FMTC). Objective/Design of the Study: Because frequencies of RET SNPs have not yet been evaluated in patients with elevated serum concentrations of calcitonin (hCt), a biochemical marker for medullary thyroid carcinoma (MTC), we studied RET SNPs in patients with FMTC (n = 22), patients with sporadic MTC (n = 45), and 71 subjects presenting with moderately elevated hCt concentrations (basal, >10 pg/ml; pentagastrin stimulated, > 50 < 100 pg/ml) in comparison with an age- and gender-matched control group (n = 79) with basal hCt concentrations in the normal range (<5 pg/ml). Methods: After DNA extraction from citrated whole blood, RET exons 10, 11, 13, 14, 15, and 16 and exon/intron boundaries were analyzed by PCR-based cycle sequencing for RET germ line mutations, exonic (G691S, L769L, S836S, S904S) and intronic (IVS13+158; NCBI rs2472737 = IVS14–24) SNPs. Results: In FMTC patients, the F791Y mutation was found to be associated (P = 0.001) with the L769L SNP. The exonic SNPs (G691S, L769L, S836S, and S904S) were not different among the four groups. The intron 14 SNP (IVS14–24), however, was more frequent in individuals with elevated hCt serum concentrations (P = 0.016) and patients with sporadic MTC (P < 0.001) when compared with the control group. Conclusions: These data suggest that the exon 13 (L769L) and the intron 14 (IVS14–24) SNPs could act as genetic modifiers in the development of some forms of hereditary and sporadic MTC, respectively.

Abstract #832: Metastatic Medullary Thyroid Carcinoma Presenting as Ectopic Cushing Syndrome

2017 ◽  
Vol 23 ◽  
pp. 179
Author(s):  
Sandeep Donagaon ◽  
Pramila Kalra ◽  
Anil Kumar ◽  
K. Harish ◽  
Shamim Sheik ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cushing Syndrome ◽  
Medullary Thyroid

Abstract #1126: Clinical Validity of Rosettagx Reveal for the Accurate Diagnosis of Preoperative Medullary Thyroid Carcinoma Utilizing FNA Smears

2017 ◽  
Vol 23 ◽  
pp. 303
Author(s):  
Michal Kushnir ◽  
Nicole Massoll ◽  
Brianna Sewell ◽  
Alexis Smith ◽  
Lisa Goodman ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Accurate Diagnosis ◽  
Clinical Validity ◽  
Medullary Thyroid

Abstract #87: Long-Term Survival in a Patient with MEN2B and Metastatic Medullary Thyroid Carcinoma

2004 ◽  
Vol 10 ◽  
pp. 29-30
Author(s):  
Claudia Panzer ◽  
Robert Beazley ◽  
Stuart Chipkin ◽  
Susanne Ebner
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Term Survival ◽  
Long Term Survival ◽  
Medullary Thyroid

Prophylactic Surgery in Medullary Thyroid Carcinoma

Swiss Surgery ◽  
2002 ◽  
Vol 8 (2) ◽  
pp. 0053-0055
Author(s):  
J.F. Moley
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Prophylactic Surgery ◽  
Medullary Thyroid

Localization of residual disease in medullary thyroid carcinoma by integrated 18F-DOPA PET / CT

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
W Karges ◽  
H Dralle ◽  
B Boehm ◽  
AK Buck ◽  
SN Reske ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Residual Disease ◽  
Medullary Thyroid ◽  
Pet Ct

Significant difference in aggressiveness of medullary thyroid carcinoma in rare RET mutations (codons 790, 791, 804)

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
K Frank-Raue ◽  
A Machens ◽  
C Scheuba ◽  
B Niederle ◽  
H Dralle ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Significant Difference
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